Canonical Allele Identifier: CA497694020
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7125333C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222014C>A , CM000679.2:g.7222014C>A GRCh38
NC_000017.10:g.7125333C>A , CM000679.1:g.7125333C>A GRCh37
NC_000017.9:g.7066057C>A NCBI36
NG_007975.1:g.7181C>A
NG_008391.2:g.3037G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.685C>A MANE Select ENSP00000349297.5:p.Arg229=
ENST00000322910.9:c.*640C>A ENSP00000325395.5:n.*640C>A
ENST00000350303.9:c.619C>A ENSP00000344152.5:p.Arg207=
ENST00000356839.9:c.685C>A ENSP00000349297.5:p.Arg229=
ENST00000543245.6:c.754C>A ENSP00000438689.2:p.Arg252=
ENST00000577191.5:n.762C>A
ENST00000577857.5:n.501C>A
ENST00000579286.5:n.866C>A
ENST00000580365.1:n.416C>A
ENST00000581378.5:c.403C>A
ENST00000582379.1:n.69C>A
ENST00000583760.1:n.467C>A
NM_000018.3:c.685C>A NP_000009.1:p.Arg229=
NM_001033859.2:c.619C>A NP_001029031.1:p.Arg207=
NM_001270447.1:c.754C>A NP_001257376.1:p.Arg252=
NM_001270448.1:c.457C>A NP_001257377.1:p.Arg153=
XM_006721516.2:c.685C>A XP_006721579.2:p.Arg229=
XM_011523829.1:c.685C>A XP_011522131.1:p.Arg229=
XM_011523830.1:c.685C>A XP_011522132.1:p.Arg229=
XR_934021.1:n.792C>A
XR_934022.1:n.792C>A
XR_934023.1:n.792C>A
XM_006721516.3:c.685C>A XP_006721579.2:p.Arg229=
XM_011523829.2:c.685C>A XP_011522131.1:p.Arg229=
XM_011523830.2:c.685C>A XP_011522132.1:p.Arg229=
XM_024450741.1:c.685C>A XP_024306509.1:p.Arg229=
XR_934021.2:n.744C>A
XR_934022.2:n.744C>A
XR_934023.2:n.744C>A
NM_000018.4:c.685C>A MANE Select NP_000009.1:p.Arg229=
NM_001033859.3:c.619C>A NP_001029031.1:p.Arg207=
NM_001270447.2:c.754C>A NP_001257376.1:p.Arg252=
NM_001270448.2:c.457C>A NP_001257377.1:p.Arg153=
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